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1998, Blackwell companions to philosophy., ISBN 0631197370, xv, 512
Book
1997, 2nd ed., Jones and Bartlett series in philosophy., ISBN 9780867209747, xvi, 461
Book
American journal of human genetics, ISSN 0002-9297, 2012, Volume 90, Issue 6, pp. 986 - 1001
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations... 
Allergy and Immunology | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Activated phosphoinositide 3-kinase delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
Journal Article
Medicine (United States), ISSN 0025-7974, 07/2012, Volume 91, Issue 4, pp. e1 - e19
...) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France... 
MEDICINE, GENERAL & INTERNAL | JOBS-SYNDROME | TRANSCRIPTION 3 | HYPERIMMUNOGLOBULIN-E SYNDROME | INVASIVE FUNGAL DISEASE | RECURRENT INFECTION | ANTIBODY-RESPONSES | CHRONIC MUCOCUTANEOUS CANDIDIASIS | COLD STAPHYLOCOCCAL ABSCESSES | SIGNAL TRANSDUCER | BONE-RESORPTION | Job Syndrome - immunology | Phosphorylation | Age Distribution | Job Syndrome - genetics | Humans | Middle Aged | Pneumonia, Bacterial - etiology | Child, Preschool | Infant | Male | Incidence | Skin Diseases, Bacterial - etiology | Young Adult | Eczema - epidemiology | Skin Diseases, Bacterial - epidemiology | DNA Mutational Analysis | STAT3 Transcription Factor - deficiency | Adult | Female | Respiratory Tract Infections - etiology | Genetic Predisposition to Disease - epidemiology | Child | Infant, Newborn | STAT3 Transcription Factor - genetics | Databases, Factual | Severity of Illness Index | France - epidemiology | Cross-Sectional Studies | Risk Assessment | Signal Transduction | Pneumonia, Bacterial - epidemiology | Eczema - etiology | Job Syndrome - epidemiology | Staphylococcal Infections - epidemiology | Job Syndrome - complications | Adolescent | Immunocompromised Host - genetics | Survival Analysis | Sex Distribution | Heterozygote | Respiratory Tract Infections - epidemiology | Staphylococcal Infections - etiology | Gene mutations | Causes of | Physiological aspects | Immunological deficiency syndromes | ACHOO syndrome | Genetic aspects | Research | Genetic transcription | T cells | Life Sciences | Genetics | Immunology
Journal Article
Blood, ISSN 1528-0020, 2014, Volume 123, Issue 6, pp. 809 - 821
Journal Article
eBook
2015, Transformations: studies in the history of science and technology, ISBN 9780262028660, xii, 336
Book
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2015, Volume 112, Issue 51, pp. E7128 - E7137
This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward... 
Pediatrics | Immunology | Infectious diseases | Human genetics | Primary immunodeficiency | human genetics | LINKED LYMPHOPROLIFERATIVE SYNDROME | CALMETTE-GUERIN INFECTION | RECEPTOR BETA-1 DEFICIENCY | MULTIDISCIPLINARY SCIENCES | infectious diseases | ANHIDROTIC ECTODERMAL DYSPLASIA | T-CELL IMMUNODEFICIENCY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | PRIMARY IMMUNODEFICIENCY DISEASES | PYOGENIC BACTERIAL-INFECTIONS | pediatrics | primary immunodeficiency | immunology | HERPES-SIMPLEX ENCEPHALITIS | INHERITED CARD9 DEFICIENCY | Encephalitis, Herpes Simplex - immunology | Humans | Genetic Diseases, Inborn - genetics | Lymphoproliferative Disorders - immunology | Mycobacterium Infections - immunology | Young Adult | Pneumococcal Infections - immunology | Mycobacterium Infections - genetics | Pneumococcal Infections - genetics | Complement System Proteins - genetics | Encephalitis, Herpes Simplex - genetics | Epidermodysplasia Verruciformis - immunology | Interferon-gamma - genetics | Immunologic Deficiency Syndromes - immunology | Child | Genetic Predisposition to Disease | Neisseria - immunology | Tinea - immunology | Infection - immunology | Candidiasis, Chronic Mucocutaneous - genetics | Malaria - immunology | Candidiasis, Chronic Mucocutaneous - immunology | Genetic Diseases, Inborn - immunology | Tinea - genetics | Epidermodysplasia Verruciformis - genetics | Lymphoproliferative Disorders - genetics | Infection - genetics | Models, Immunological | Neisseria - pathogenicity | Influenza, Human - genetics | Interferon-gamma - immunology | Adolescent | Immunologic Deficiency Syndromes - genetics | Models, Genetic | Malaria - genetics | Influenza, Human - immunology | Development and progression | Genetic aspects | Disease susceptibility | Immune response | Communicable diseases | Biological Sciences | PNAS Plus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Journal Article
The Journal of clinical investigation, ISSN 1558-8238, 2017, Volume 127, Issue 5, pp. 1991 - 2006
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 132, Issue 3, pp. 515 - 525
Journal Article